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Category: genetics

First human DNA-cutting enzyme that senses physical tension discovered

An international research team has identified a human protein, ANKLE1, as the first DNA-cutting enzyme (nuclease) in mammals capable of detecting and responding to physical tension in DNA. This “tension-sensing” mechanism plays a vital role in maintaining genetic integrity during cell division—a process that, when disrupted, can lead to cancer and other serious diseases.

The study, titled “ANKLE1 processes chromatin bridges by cleaving mechanically stressed DNA,” published in Nature Communications, represents a major advance in the understanding of cellular DNA protection.

The research was conducted through a cross-disciplinary collaboration between Professor Gary Ying Wai Chan’s laboratory at the School of Biological Sciences, The University of Hong Kong (HKU) and Dr. Artem Efremov’s biophysics team at Shenzhen Bay Laboratory (SZBL), with additional contributions from researchers at the Hong Kong University of Science and Technology (HKUST) and the Francis Crick Institute in London.

Gene therapy improves movement in kids with spinal muscular atrophy

A single-dose gene replacement therapy is found to improve movement ability in children over 2 years of age and teenagers with spinal muscular atrophy, according to research published in Nature Medicine. The results of this phase 3 clinical trial, involving 126 children and adolescents, could support an alternative to lifelong, repeat-dose treatments for people living with spinal atrophy beyond the age of 2 years.

Spinal muscular atrophy is a rare genetic condition that causes muscle weakness and loss of movement over time. It develops because the body cannot make enough of a protein, called survival motor neuron, needed for healthy nerve cells.

Onasemnogene abeparvovec is a gene therapy that restores production of this missing protein in a single treatment. However, it is currently approved in the U.S. and Europe only as a single intravenous treatment for children under 2 years of age. Therefore, those older than 2 years of age can receive treatments only to slow the disease, and these must be taken regularly, either by injection or orally.

Taxonomy of Bacteria: Identification and Classification

We’ve been looking at bacteria for a few centuries now, so how do we categorize them? We love to classify things and put them in groups, so how does that work for bacteria? Well let’s learn about Gram-staining, antigens, other phenotypic and genotypic properties, and we will be well on our way to understanding this process!

Script by Kellie Vinal.

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Who’s Really Winning At Longevity? (Featuring @Unaging.Crissman.Loomis)

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Scientists shed new light on the shared genetic basis of psychiatric disorders

New research uncovers how shared genes contribute to various psychiatric disorders. This breakthrough highlights the importance of pleiotropic genes—those affecting multiple conditions—and offers new avenues for mental health treatment development.

Children with better musical skills may benefit from a prolonged window of brain plasticity

Children who excel at keeping the beat may possess brains that mature more slowly, extending their capacity for learning. A new longitudinal twin study indicates that this prolonged development is shaped by both genetic predispositions and musical engagement.

Researchers uncover the earliest stages of human placenta formation

A gene that turns on very early in embryonic development could be key to the formation of the placenta, which provides the developing fetus with what it needs to thrive during gestation.

The placenta provides all of the nutrition, oxygen and antibodies that a developing human fetus needs to thrive throughout gestation. The temporary organ begins to form within six to 12 days after conception, just as the embryo implants itself in the lining of the uterus. Failure of the placenta to form correctly is the second leading cause of miscarriage during early pregnancy, after genetic abnormalities of the fetus that are incompatible with life.

However, the initial stages of placental formation have remained a mystery due to ethical considerations and technical constraints on studying the process in humans.

Machine learning reveals how disordered protein regions contribute to cancer-causing condensates

Fusion oncoproteins arise when a gene fuses with another gene and acquires new abilities. Such abilities can include the formation of biomolecular condensates, “droplets” of concentrated proteins, DNA or RNA.

The abnormal molecular condensates formed by fusion oncoproteins can disrupt cellular functions and drive cancer development, but the specific protein features behind this process remain unclear.

Scientists at St. Jude Children’s Research Hospital studied intrinsically disordered regions, unstructured protein segments that are often involved in condensate formation, to determine if they drive fusion oncoproteins to form condensates. They trained a machine learning model, called IDR-Puncta ML, with experimental data from intrinsically disordered regions in fusion oncoproteins to predict the behavior of other such regions.

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